LOCUS       NM_014628               1269 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens MAD2L1 binding protein (MAD2L1BP), transcript variant
            2, mRNA.
ACCESSION   NM_014628
VERSION     NM_014628.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1269)
  AUTHORS   Abdel-Salam,G.M.H., Hellmuth,S., Gradhand,E., Kaseberg,S.,
            Winter,J., Pabst,A.S., Eid,M.M., Thiele,H., Nurnberg,P.,
            Budde,B.S., Toliat,M.R., Brecht,I.B., Schroeder,C., Gschwind,A.,
            Ossowski,S., Hauser,F., Rossmann,H., Abdel-Hamid,M.S., Hegazy,I.,
            Mohamed,A.G., Schneider,D.T., Bertoli-Avella,A., Bauer,P.,
            Pearring,J.N., Pfundt,R., Hoischen,A., Gilissen,C., Strand,D.,
            Zechner,U., Tashkandi,S.A., Faqeih,E.A., Stemmann,O., Strand,S. and
            Bolz,H.J.
  TITLE     Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic
            aneuploidy and juvenile granulosa cell tumors
  JOURNAL   JCI Insight 8 (22), e170079 (2023)
   PUBMED   37796616
  REMARK    GeneRIF: Biallelic MAD2L1BP (p31comet) mutation is associated with
            mosaic aneuploidy and juvenile granulosa cell tumors.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1269)
  AUTHORS   Huang,L., Li,W., Dai,X., Zhao,S., Xu,B., Wang,F., Jin,R.T., Luo,L.,
            Wu,L., Jiang,X., Cheng,Y., Zou,J., Xu,C., Tong,X., Fan,H.Y.,
            Zhao,H. and Bao,J.
  TITLE     Biallelic variants in MAD2L1BP (p31comet) cause female infertility
            characterized by oocyte maturation arrest
  JOURNAL   Elife 12, e85649 (2023)
   PUBMED   37334967
  REMARK    GeneRIF: Biallelic variants in MAD2L1BP (p31[comet]) cause female
            infertility characterized by oocyte maturation arrest.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1269)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 1269)
  AUTHORS   Sarangi,P., Clairmont,C.S., Galli,L.D., Moreau,L.A. and
            D'Andrea,A.D.
  TITLE     p31comet promotes homologous recombination by inactivating REV7
            through the TRIP13 ATPase
  JOURNAL   Proc Natl Acad Sci U S A 117 (43), 26795-26803 (2020)
   PUBMED   33051298
  REMARK    GeneRIF: p31(comet) promotes homologous recombination by
            inactivating REV7 through the TRIP13 ATPase.
REFERENCE   5  (bases 1 to 1269)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 1269)
  AUTHORS   Xia,G., Luo,X., Habu,T., Rizo,J., Matsumoto,T. and Yu,H.
  TITLE     Conformation-specific binding of p31(comet) antagonizes the
            function of Mad2 in the spindle checkpoint
  JOURNAL   EMBO J 23 (15), 3133-3143 (2004)
   PUBMED   15257285
  REMARK    GeneRIF: p31(comet, formerly known as Cmt2) counteracts the
            function of Mad2 and is required for the silencing of the spindle
            checkpoint
REFERENCE   7  (bases 1 to 1269)
  AUTHORS   Mungall,A.J., Palmer,S.A., Sims,S.K., Edwards,C.A., Ashurst,J.L.,
            Wilming,L., Jones,M.C., Horton,R., Hunt,S.E., Scott,C.E.,
            Gilbert,J.G., Clamp,M.E., Bethel,G., Milne,S., Ainscough,R.,
            Almeida,J.P., Ambrose,K.D., Andrews,T.D., Ashwell,R.I.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Barker,D.J.,
            Barlow,K.F., Bates,K., Beare,D.M., Beasley,H., Beasley,O.,
            Bird,C.P., Blakey,S., Bray-Allen,S., Brook,J., Brown,A.J.,
            Brown,J.Y., Burford,D.C., Burrill,W., Burton,J., Carder,C.,
            Carter,N.P., Chapman,J.C., Clark,S.Y., Clark,G., Clee,C.M.,
            Clegg,S., Cobley,V., Collier,R.E., Collins,J.E., Colman,L.K.,
            Corby,N.R., Coville,G.J., Culley,K.M., Dhami,P., Davies,J.,
            Dunn,M., Earthrowl,M.E., Ellington,A.E., Evans,K.A., Faulkner,L.,
            Francis,M.D., Frankish,A., Frankland,J., French,L., Garner,P.,
            Garnett,J., Ghori,M.J., Gilby,L.M., Gillson,C.J., Glithero,R.J.,
            Grafham,D.V., Grant,M., Gribble,S., Griffiths,C., Griffiths,M.,
            Hall,R., Halls,K.S., Hammond,S., Harley,J.L., Hart,E.A.,
            Heath,P.D., Heathcott,R., Holmes,S.J., Howden,P.J., Howe,K.L.,
            Howell,G.R., Huckle,E., Humphray,S.J., Humphries,M.D., Hunt,A.R.,
            Johnson,C.M., Joy,A.A., Kay,M., Keenan,S.J., Kimberley,A.M.,
            King,A., Laird,G.K., Langford,C., Lawlor,S., Leongamornlert,D.A.,
            Leversha,M., Lloyd,C.R., Lloyd,D.M., Loveland,J.E., Lovell,J.,
            Martin,S., Mashreghi-Mohammadi,M., Maslen,G.L., Matthews,L.,
            McCann,O.T., McLaren,S.J., McLay,K., McMurray,A., Moore,M.J.,
            Mullikin,J.C., Niblett,D., Nickerson,T., Novik,K.L., Oliver,K.,
            Overton-Larty,E.K., Parker,A., Patel,R., Pearce,A.V., Peck,A.I.,
            Phillimore,B., Phillips,S., Plumb,R.W., Porter,K.M., Ramsey,Y.,
            Ranby,S.A., Rice,C.M., Ross,M.T., Searle,S.M., Sehra,H.K.,
            Sheridan,E., Skuce,C.D., Smith,S., Smith,M., Spraggon,L.,
            Squares,S.L., Steward,C.A., Sycamore,N., Tamlyn-Hall,G., Tester,J.,
            Theaker,A.J., Thomas,D.W., Thorpe,A., Tracey,A., Tromans,A.,
            Tubby,B., Wall,M., Wallis,J.M., West,A.P., White,S.S.,
            Whitehead,S.L., Whittaker,H., Wild,A., Willey,D.J., Wilmer,T.E.,
            Wood,J.M., Wray,P.W., Wyatt,J.C., Young,L., Younger,R.M.,
            Bentley,D.R., Coulson,A., Durbin,R., Hubbard,T., Sulston,J.E.,
            Dunham,I., Rogers,J. and Beck,S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
REFERENCE   8  (bases 1 to 1269)
  AUTHORS   Habu,T., Kim,S.H., Weinstein,J. and Matsumoto,T.
  TITLE     Identification of a MAD2-binding protein, CMT2, and its role in
            mitosis
  JOURNAL   EMBO J 21 (23), 6419-6428 (2002)
   PUBMED   12456649
REFERENCE   9  (bases 1 to 1269)
  AUTHORS   Suzuki,H., Fukunishi,Y., Kagawa,I., Saito,R., Oda,H., Endo,T.,
            Kondo,S., Bono,H., Okazaki,Y. and Hayashizaki,Y.
  TITLE     Protein-protein interaction panel using mouse full-length cDNAs
  JOURNAL   Genome Res 11 (10), 1758-1765 (2001)
   PUBMED   11591653
REFERENCE   10 (bases 1 to 1269)
  AUTHORS   Hoja,M.R., Wahlestedt,C. and Hoog,C.
  TITLE     A visual intracellular classification strategy for uncharacterized
            human proteins
  JOURNAL   Exp Cell Res 259 (1), 239-246 (2000)
   PUBMED   10942595
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB991410.1, BI255998.1 and
            BC002904.2.
            
            On Jun 2, 2019 this sequence version replaced NM_014628.2.
            
            Summary: The protein encoded by this gene was identified as a
            binding protein of the MAD2 mitotic arrest deficient-like 1
            (MAD2/MAD2L1). MAD2 is a key component of the spindle checkpoint
            that delays the onset of anaphase until all the kinetochores are
            attached to the spindle. This protein may interact with the spindle
            checkpoint and coordinate cell cycle events in late mitosis.
            Alternatively spliced transcript variants encoding distinct
            isoforms have been observed. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant differs in the 5' region compared
            to variant 1, which includes a part of the coding sequence. The
            resulting isoform (2) has a distinct and shorter N-terminus, as
            compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189655.74441.1,
                                           SRR5189652.160171.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372171.5/ ENSP00000361244.4
            RefSeq Select criteria :: based on expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-20                CB991410.1         28-47
            21-70               BI255998.1         7-56
            71-584              BI255998.1         58-571
            585-683             BI255998.1         573-671
            684-1269            BC002904.2         654-1239
FEATURES             Location/Qualifiers
     source          1..1269
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     gene            1..1269
                     /gene="MAD2L1BP"
                     /gene_synonym="CMT2; p31comet"
                     /note="MAD2L1 binding protein"
                     /db_xref="GeneID:9587"
                     /db_xref="HGNC:HGNC:21059"
                     /db_xref="MIM:618136"
     exon            1..82
                     /gene="MAD2L1BP"
                     /gene_synonym="CMT2; p31comet"
                     /inference="alignment:Splign:2.1.0"
     CDS             37..861
                     /gene="MAD2L1BP"
                     /gene_synonym="CMT2; p31comet"
                     /note="isoform 2 is encoded by transcript variant 2;
                     caught by MAD2 protein; p31(comet)"
                     /codon_start=1
                     /product="MAD2L1-binding protein isoform 2"
                     /protein_id="NP_055443.1"
                     /db_xref="CCDS:CCDS4904.1"
                     /db_xref="GeneID:9587"
                     /db_xref="HGNC:HGNC:21059"
                     /db_xref="MIM:618136"
                     /translation="MAAPEAEVLSSAAVPDLEWYEKSEETHASQIELLETSSTQEPLN
                     ASEAFCPRDCMVPVVFPGPVSQEGCCQFTCELLKHIMYQRQQLPLPYEQLKHFYRKPS
                     PQAEEMLKKKPRATTEVSSRKCQQALAELESVLSHLEDFFARTLVPRVLILLGGNALS
                     PKEFYELDLSLLAPYSVDQSLSTAACLRRLFRAIFMADAFSELQAPPLMGTVVMAQGH
                     RNCGEDWFRPKLNYRVPSRGHKLTVTLSCGRPSIRTTAWEDYIWFQAPVTFKGFRE"
     exon            83..348
                     /gene="MAD2L1BP"
                     /gene_synonym="CMT2; p31comet"
                     /inference="alignment:Splign:2.1.0"
     exon            349..1269
                     /gene="MAD2L1BP"
                     /gene_synonym="CMT2; p31comet"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1249..1254
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAD2L1BP"
                     /gene_synonym="CMT2; p31comet"
                     /note="hexamer: AATAAA"
     polyA_site      1269
                     /gene="MAD2L1BP"
                     /gene_synonym="CMT2; p31comet"
                     /note="major polyA site"
ORIGIN      
        1 attctaaccg caaggagtag cggaggggag gtcgtgatgg cggcgccgga ggcggaggtt
       61 ctgtcctcag ccgcagtccc tgatttggag tggtatgaga agtccgaaga aactcacgcc
      121 tcccagatag aactacttga gacaagctct acgcaggaac ctctcaacgc ttcggaggcc
      181 ttttgcccaa gagactgcat ggtaccagtg gtgtttcctg ggcctgtgag ccaggaaggc
      241 tgctgtcagt ttacttgtga acttctaaag catatcatgt atcaacgcca gcagctccct
      301 ctgccctatg aacagcttaa gcacttttac cgaaaacctt ctccccaggc agaggagatg
      361 ctgaagaaga aacctcgggc caccactgag gtgagcagca ggaaatgcca acaagccctg
      421 gcagaactgg agagtgtcct cagccacctg gaggacttct ttgcacggac actagtaccg
      481 cgagtgctga ttctccttgg gggcaatgcc ctaagcccca aggagttcta tgaactcgac
      541 ttgtctctgc tggcccccta cagcgtggac cagagcctga gcacagcagc ttgtttgcgc
      601 cgtctcttcc gagccatatt catggctgat gcctttagcg agcttcaggc tcctccactc
      661 atgggcaccg tcgtcatggc acagggacac cgcaactgtg gagaagattg gtttcgaccc
      721 aagctcaact atcgagtgcc cagccggggc cataaactga ctgtgaccct gtcatgtggc
      781 agaccttcca tccgaaccac ggcttgggaa gactacattt ggttccaggc accagtgaca
      841 tttaaaggct tccgcgagtg aatgagtgct tcttaatcct aaaaacacaa tggctgaatt
      901 atctttctcc atgtggcgct gaatcaccca tctggtttgg agctagagtt gcttcctggt
      961 gagagaggaa gcaactctcc ttctggttgt ctgcctcccc tcagatttcc tgataggctg
     1021 atggcatgtg gctgtgactg tgactgtaat cattgctgaa caacatctct ttgaatcaaa
     1081 ggttgatttt cccagagggt gctgggtcag gcatttctat taggagttgg aaagcaaaaa
     1141 tgggtccata gacactctat ggaggtgtcc ctttctgctc tttgctgtgt cctttcagaa
     1201 tttttaccag gaacataatg tggatgtgac ttatgaactt aaatataaaa taaatagatt
     1261 cttattata
//
